Abstract
Biallelic pathogenic variants in mitochondrial aminoacyl-tRNA synthetase (mt-aaRS)
PARS2
are associated with mitochondrial cytopathy. Here, we report the tenth case of an individual with biallelic
PARS2
pathogenic variants, detected by exome sequencing (ES), and a literature review of ten cases of
PARS2
mutations. Our patient displayed symptoms and clinical and laboratory findings similar to those reported previously with normal lactate levels. These symptoms included seizure disorder (which was managed with antiepileptics), developmental delay, and progressive cardiomyopathy which manifested at 19 years of age. The patient received a vitamin regimen including antioxidants as part of his treatment regimen. While further studies are required to conclusively establish the beneficial role of vitamin and cofactor administration on the mitochondria in PARS2-associated mitochondrial disease, these factors may have delayed the onset of cardiomyopathy.